ADAMTSL2 autosomal dominant

Parents

Abnormally appearing facial structures, joint pain and hypermobility, heart valve issues, stretchy skin, easy bruising/prone to bleeding, slow wound healing, scoliosis, lazy eye, ureteral issues. Inherited in an autosomal dominant fashion which means that only one copy of the mutation is needed to cause the disease. This has been identified in eight cases seen in published research.